A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053838



Internal ID18796369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12134998hg38UCSC Ensembl
Innerchr10:12101680..12176997hg19UCSC Ensembl
Innerchr10:12141686..12217003hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3875318
hg1975318
hg1875318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3484390, nssv3491732, nssv3501512
Samples
Known GenesDHTKD1, SEC61A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053838
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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